List of variants reported as benign for muscle tissue disorder by Phosphorus, Inc.

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 28

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000152.5(GAA):c.324T>C (p.Cys108=)	rs1800300	0.71989
NM_004415.4(DSP):c.8472G>C (p.Gly2824=)	rs2744380	0.68624
NM_000152.5(GAA):c.596A>G (p.His199Arg)	rs1042393	0.65667
NM_000152.5(GAA):c.1203G>A (p.Gln401=)	rs1800304	0.65453
NM_004006.3(DMD):c.5234G>A (p.Arg1745His)	rs1801187	0.36912
NM_000152.5(GAA):c.1581G>A (p.Arg527=)	rs1042396	0.20175
NM_000152.5(GAA):c.642C>T (p.Ser214=)	rs1800301	0.16610
NM_004006.3(DMD):c.7728T>C (p.Asn2576=)	rs1801188	0.15883
NM_024301.5(FKRP):c.135C>T (p.Ala45=)	rs2287717	0.14031
NM_004006.3(DMD):c.1635A>G (p.Arg545=)	rs5927083	0.12751
NM_000152.5(GAA):c.921A>T (p.Ala307=)	rs1800303	0.11304
NM_021167.5(GATAD1):c.160G>A (p.Gly54Ser)	rs10281879	0.10561
NM_000152.5(GAA):c.1374C>T (p.Tyr458=)	rs1800305	0.10079
NM_000152.5(GAA):c.2446G>A (p.Val816Ile)	rs1800314	0.05752
NM_000152.5(GAA):c.*3G>A	rs1800317	0.05534
NM_000152.5(GAA):c.2780C>T (p.Thr927Ile)	rs1800315	0.04402
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys)	rs1800309	0.04051
NM_004006.3(DMD):c.8734A>G (p.Asn2912Asp)	rs1800278	0.02976
NM_004006.3(DMD):c.8729A>T (p.Glu2910Val)	rs41305353	0.02876
NM_000018.4(ACADVL):c.128G>A (p.Gly43Asp)	rs2230178	0.02763
NM_020433.5(JPH2):c.1513G>A (p.Gly505Ser)	rs140740776	0.01003
NM_024301.5(FKRP):c.341C>G (p.Ala114Gly)	rs143793528	0.00910
NM_005477.3(HCN4):c.2648C>G (p.Pro883Arg)	rs148398509	0.00737
NM_002471.4(MYH6):c.2928+5G>A	rs28730772	0.00172
NM_001267550.2(TTN):c.15561G>A (p.Leu5187=)	rs779159076	0.00004
NM_000152.5(GAA):c.858+7_858+8insAGCGGGC	rs3071247
NM_001267550.2(TTN):c.15561G>T (p.Leu5187=)	rs779159076
NM_004006.3(DMD):c.94-9dup	rs3834997

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.